View CLN8 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol CLN8
Gene name ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
Chromosome 8
Chromosomal band p23.3
Imprinted Unknown
Genomic reference NC_000008.10
Transcript reference NM_018941.3, XM_005266021.1, XM_005266022.1, XM_005266023.1, XM_005266024.1, XM_005266025.1, XM_005266026.1, XM_005266027.1, XM_005266028.1
Associated with diseases -
Citation reference(s) -
Curators (0) -
Total number of public variants reported 0
Unique public DNA variants reported 0
Individuals with public variants 0
Hidden variants 0
Notes MSeqDR-LSDB
Date created November 12, 2013

Links to other resources
HGNC 2079
Entrez Gene 2055
PubMed articles CLN8
OMIM - Gene 607837
HGMD CLN8
GeneCards CLN8
GeneTests CLN8


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00003371 8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) NM_018941.3 NP_061764.2 0
00003372 8 transcript variant X1 XM_005266021.1 XP_005266078.1 0
00003373 8 transcript variant X2 XM_005266022.1 XP_005266079.1 0
00003374 8 transcript variant X3 XM_005266023.1 XP_005266080.1 0
00003375 8 transcript variant X4 XM_005266024.1 XP_005266081.1 0
00003376 8 transcript variant X5 XM_005266025.1 XP_005266082.1 0
00003377 8 transcript variant X6 XM_005266026.1 XP_005266083.1 0
00003378 8 transcript variant X7 XM_005266027.1 XP_005266084.1 0
00003379 8 transcript variant X8 XM_005266028.1 XP_005266085.1 0


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Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium